Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease

Preferred Label : Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 209010;

Détails

Origin ID

209010;

UMLS CUI

C1859596;

Automatic exact mappings (from CISMeF team)
- atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease [MeSH Supplementary Concept]
- atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease [MeSH concept]
Currated CISMeF NLP mapping
- Atherosclerosis - deafness - diabetes - epilepsy - nephropathy [ICD-11 More detail]
- Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) [SNOMED CT concept]
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome [ORDO Disease]
- Feigenbaum Bergeron Richardson syndrome [MeSH concept]
- feigenbaum bergeron richardson syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Cerebral artery atherosclerosis [HPO term]
- Coronary artery atherosclerosis [HPO term]
- Diabetes mellitus [HPO term]
- Nephropathy [HPO term]
- Photosensitive myoclonic seizure [HPO term]
- Proteinuria [HPO term]
- Renal artery stenosis [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease [MeSH Supplementary Concept]
- atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease [MeSH concept]

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